Publications by authors named "Donatella Milani"

93Publications

Neurological phenotype of Potocki-Lupski syndrome.

Am J Med Genet A 2020 Oct 15;182(10):2317-2324. Epub 2020 Aug 15.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61789DOI Listing
October 2020

Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5.

Am J Med Genet A 2020 Sep 25. Epub 2020 Sep 25.

Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61881DOI Listing
September 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Aortic dilation in Sotos syndrome: An underestimated feature?

Am J Med Genet A 2020 07 14;182(7):1819-1823. Epub 2020 Apr 14.

Unità di Pediatria ad Alta Intensità di Cura, Fondazione IRCCS Ca' Granda, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61591DOI Listing
July 2020

Unexpected phenotype in a frameshift mutation of PTCH1.

Mol Genet Genomic Med 2020 01 2;8(1):e987. Epub 2019 Oct 2.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/mgg3.987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978275PMC
January 2020

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

J Obstet Gynaecol Res 2019 Mar 13;45(3):705-708. Epub 2018 Dec 13.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/jog.13873
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http://dx.doi.org/10.1111/jog.13873DOI Listing
March 2019

Recurrence and Familial Inheritance of Intronic Pathogenic Variant Associated With Mild CdLS.

Front Neurol 2018 27;9:967. Epub 2018 Nov 27.

Laboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.

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http://dx.doi.org/10.3389/fneur.2018.00967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277459PMC
November 2018

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Eur J Med Genet 2019 Dec 4;62(12):103596. Epub 2018 Dec 4.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183042
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http://dx.doi.org/10.1016/j.ejmg.2018.12.001DOI Listing
December 2019

13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature.

Mol Cytogenet 2018 19;11:53. Epub 2018 Sep 19.

1Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145 Milan, Italy.

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http://dx.doi.org/10.1186/s13039-018-0401-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148795PMC
September 2018

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem Cell Res 2018 07 30;30:130-140. Epub 2018 May 30.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, 20145 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.05.019DOI Listing
July 2018

Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature.

J Pediatr Adolesc Gynecol 2018 Oct 3;31(5):533-535. Epub 2018 May 3.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpag.2018.04.003DOI Listing
October 2018

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Am J Med Genet A 2018 06 16;176(6):1427-1431. Epub 2018 Apr 16.

Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38704DOI Listing
June 2018

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Am J Med Genet B Neuropsychiatr Genet 2018 06 10;177(4):406-415. Epub 2018 Apr 10.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32628DOI Listing
June 2018

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

J Hum Genet 2018 03 7;63(3):391. Epub 2018 Feb 7.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/s10038-017-0369-8DOI Listing
March 2018

Perthes disease: A new finding in Floating-Harbor syndrome.

Am J Med Genet A 2018 03 31;176(3):703-706. Epub 2018 Jan 31.

Genetica Medica, Dip. Scienze della Salute, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38605DOI Listing
March 2018

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Hum Genet 2017 10 3;136(10):1329-1339. Epub 2017 Aug 3.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-017-1832-5DOI Listing
October 2017

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

J Hum Genet 2017 Nov 27;62(11):1001-1004. Epub 2017 Jul 27.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2017.78DOI Listing
November 2017

Fragile X syndrome: a review of clinical and molecular diagnoses.

Ital J Pediatr 2017 Apr 19;43(1):39. Epub 2017 Apr 19.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, Loc. S. Andrea delle Fratte, 06132, Perugia, Italy.

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http://dx.doi.org/10.1186/s13052-017-0355-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395755PMC
April 2017

ZC4H2 deletions can cause severe phenotype in female carriers.

Am J Med Genet A 2017 May 27;173(5):1358-1363. Epub 2017 Mar 27.

Developmental Neurology Unit, Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38155DOI Listing
May 2017

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Am J Med Genet A 2017 Mar 25;173(3):638-646. Epub 2016 Dec 25.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38054DOI Listing
March 2017

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Eur J Med Genet 2017 Mar 20;60(3):159-162. Epub 2016 Dec 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212163011
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http://dx.doi.org/10.1016/j.ejmg.2016.12.006DOI Listing
March 2017

A case report with the peculiar concomitance of 2 different genetic syndromes.

Medicine (Baltimore) 2016 Dec;95(49):e5567

aNeuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan bAzienda Ospedaliera di Desio e Vimercate, Neurology Unit, Desio cPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico dDino Ferrari Centre, Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1097/MD.0000000000005567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266037PMC
December 2016

7p22.1 microduplication syndrome: Refinement of the critical region.

Eur J Med Genet 2017 Feb 16;60(2):114-117. Epub 2016 Nov 16.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212163015
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http://dx.doi.org/10.1016/j.ejmg.2016.11.005DOI Listing
February 2017

is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.

Mol Cytogenet 2016 3;9:80. Epub 2016 Nov 3.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s13039-016-0289-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093957PMC
November 2016

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

J Pediatr Genet 2015 Sep 28;4(3):177-86. Epub 2015 Sep 28.

Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy.

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http://dx.doi.org/10.1055/s-0035-1564571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918723PMC
September 2015

Intellectual Disability: When the Hypertrichosis Is a Clue.

J Pediatr Genet 2015 Sep 28;4(3):154-8. Epub 2015 Sep 28.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; Unit of Dermatology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1055/s-0035-1564442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918720PMC
September 2015

Genetic Advances in Intellectual Disability.

J Pediatr Genet 2015 Sep;4(3):125-7

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1055/s-0035-1564438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918716PMC
September 2015

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.

Congenit Anom (Kyoto) 2016 Jul;56(4):187-189

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/cga.12164DOI Listing
July 2016

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

BMC Med Genet 2016 Mar 11;17:22. Epub 2016 Mar 11.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.

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http://dx.doi.org/10.1186/s12881-016-0287-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788854PMC
March 2016

Electroclinical phenotype in Rubinstein-Taybi syndrome.

Brain Dev 2016 Jun 8;38(6):563-70. Epub 2016 Feb 8.

Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604150025
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http://dx.doi.org/10.1016/j.braindev.2015.12.003DOI Listing
June 2016

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Am J Med Genet A 2016 May 11;170A(5):1257-61. Epub 2016 Jan 11.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37553DOI Listing
May 2016

Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome.

Seizure 2015 Nov 21;32:49-51. Epub 2015 Sep 21.

Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy.

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http://dx.doi.org/10.1016/j.seizure.2015.09.005DOI Listing
November 2015

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.

Pediatr Blood Cancer 2016 Mar 20;63(3):572-3. Epub 2015 Oct 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/pbc.25806DOI Listing
March 2016

Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines.

Hum Vaccin Immunother 2016 03;12(3):801-5

a Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation , Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico , Milan , Italy.

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http://www.tandfonline.com/doi/full/10.1080/21645515.2015.10
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http://dx.doi.org/10.1080/21645515.2015.1086046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964625PMC
March 2016

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.

Ital J Pediatr 2015 Jul 14;41:50. Epub 2015 Jul 14.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.

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http://www.ijponline.net/content/41/1/50
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http://dx.doi.org/10.1186/s13052-015-0156-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501294PMC
July 2015

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

Congenit Anom (Kyoto) 2015 Nov;55(4):191-2

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1111/cga.12119DOI Listing
November 2015

Treatment of neurofibromatosis type 1.

Curr Treat Options Neurol 2015 Jun;17(6):355

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy,

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http://dx.doi.org/10.1007/s11940-015-0355-4DOI Listing
June 2015

HOXA genes cluster: clinical implications of the smallest deletion.

Ital J Pediatr 2015 Apr 10;41:31. Epub 2015 Apr 10.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milan, 20122, Italy.

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http://dx.doi.org/10.1186/s13052-015-0137-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395968PMC
April 2015

Potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300.

J Hypertens 2015 Mar;33(3):664-5

aPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico bMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1097/HJH.0000000000000507DOI Listing
March 2015

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Ital J Pediatr 2015 Jan 20;41. Epub 2015 Jan 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy.

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http://dx.doi.org/10.1186/s13052-015-0110-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308897PMC
January 2015

A multidisciplinary approach in neurofibromatosis 1.

Lancet Neurol 2015 Jan;14(1):29-30

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan 20122, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70255-8DOI Listing
January 2015

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.

Appl Clin Genet 2014 16;7:169-75. Epub 2014 Sep 16.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy ; Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.2147/TACG.S35474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173641PMC
September 2014

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Am J Med Genet A 2014 Dec 24;164A(12):3154-61. Epub 2014 Sep 24.

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36746DOI Listing
December 2014

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

Congenit Anom (Kyoto) 2015 May;55(2):107-11

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1111/cga.12080DOI Listing
May 2015

Ehlers-Danlos syndrome versus cleidocranial dysplasia.

Ital J Pediatr 2014 May 24;40:49. Epub 2014 May 24.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milan 20122, Italy.

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http://dx.doi.org/10.1186/1824-7288-40-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130426PMC
May 2014

Is it time to change the neurofibromatosis 1 diagnostic criteria?

Eur J Intern Med 2014 Jul 29;25(6):506-10. Epub 2014 Apr 29.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2014.04.004DOI Listing
July 2014

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.

Int J Pediatr Otorhinolaryngol 2014 Jul 8;78(7):1045-8. Epub 2014 Apr 8.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876140018
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http://dx.doi.org/10.1016/j.ijporl.2014.03.038DOI Listing
July 2014

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

Am J Med Genet B Neuropsychiatr Genet 2014 Apr 7;165B(3):223-9. Epub 2014 Feb 7.

Unità Operativa Neuropsichiatria dell'Infanzia e dell'Adolescenza, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32224DOI Listing
April 2014

Syndromic obesity: clinical implications of a correct diagnosis.

Ital J Pediatr 2014 Apr 2;40(1):33. Epub 2014 Apr 2.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milano 20122, Italy.

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http://link.springer.com/content/pdf/10.1186%2F1824-7288-40-
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http://ijponline.biomedcentral.com/articles/10.1186/1824-728
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http://dx.doi.org/10.1186/1824-7288-40-33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230022PMC
April 2014

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

Pediatr Neurol 2014 Apr 7;50(4):427-30. Epub 2014 Jan 7.

Pediatric Clinic I, Department of Pathophysiology and Transplantation, University of Milan Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.004DOI Listing
April 2014

Think about it: FMR1 gene mosaicism.

J Child Neurol 2014 Sep 23;29(9):NP74-7. Epub 2013 Sep 23.

Pediatric Clinic 1, Department of Pathophysiology and Transplantation, University of Milan Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

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http://dx.doi.org/10.1177/0883073813503187DOI Listing
September 2014

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.

Am J Med Genet A 2013 Mar 22;161A(3):611-8. Epub 2013 Jan 22.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35814DOI Listing
March 2013

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.

Am J Med Genet A 2011 Feb 13;155A(2):353-9. Epub 2011 Jan 13.

UOD di Genetica Medica, Dipartimento Salute della donna, del bambino, del neonato, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33819DOI Listing
February 2011

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Chromosome Res 2009 19;17(6):763-71. Epub 2009 Aug 19.

Division of Medical Genetics, San Paolo School of Medicine, University of Milan, via A. di Rudinì 8, 20142 Milan, Italy.

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http://link.springer.com/10.1007/s10577-009-9066-6
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December 2009

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.

Am J Med Genet A 2008 Feb;146A(4):426-32

Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32183DOI Listing
February 2008

Coeliac disease and Cornelia de Lange syndrome: lack of association.

Acta Paediatr 2007 Oct 10;96(10):1518-20. Epub 2007 Sep 10.

Pediatric Surgery Unit, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1111/j.1651-2227.2007.00468.xDOI Listing
October 2007

Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case.

J Child Neurol 2007 Jul;22(7):883-6

Paediatric Department, IRCCS Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, University of Milan, Italy.

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http://dx.doi.org/10.1177/0883073807304195DOI Listing
July 2007

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.

J Child Neurol 2006 Dec;21(12):1084-5

Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1177/7010.2006.00229DOI Listing
December 2006

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Nat Genet 2006 May 9;38(5):528-30. Epub 2006 Apr 9.

Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy.

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https://www.nature.com/articles/ng1779.pdf
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May 2006

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Pediatr Neurol 2005 May;32(5):355-7

Pediatric Department, Istituti Clinici di Perfezionamento, University of Milan, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.12.012DOI Listing
May 2005

Anomalies of the kidney and urinary tract are common in de Lange syndrome.

Am J Med Genet A 2005 Feb;132A(4):395-7

Ambulatorio Genetica Clinica, Clinica Pediatrica de Marchi, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30445DOI Listing
February 2005

Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.

Pediatr Nephrol 2002 Nov 9;17(11):899-902. Epub 2002 Oct 9.

Centro di Genetica dell'Infanzia, Clinica Pediatrica I, Clinica De Marchi, Milano, Italy.

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http://dx.doi.org/10.1007/s00467-002-0889-zDOI Listing
November 2002